Publications by authors named "O Bluteau"
The mechanisms governing adipose tissue macrophage (ATM) metabolic adaptation during diet-induced obesity (DIO) are poorly understood. In obese adipose tissue, ATMs are exposed to lipid fluxes, which can influence the activation of specific inflammatory and metabolic programs and contribute to the development of obesity-associated insulin resistance and other metabolic disorders. In the present study, we demonstrate that the membrane ATP-binding cassette g1 (Abcg1) transporter controls the ATM functional response to fatty acids (FAs) carried by triglyceride-rich lipoproteins, which are abundant in high-energy diets.
View Article and Find Full Text PDFArticle Synopsis
- PCSK9 is crucial for regulating LDL-cholesterol and certain variants, like p.Ser127Arg, lead to higher cholesterol levels and are mainly found in France, with few in South Africa and Norway due to a common ancestor effect.
- The study analyzed 14 p.Ser127Arg carriers from eight families and compared them with other variants to understand their genetic background and health impact.
- Results indicated that the common ancestor lived about 775 years ago, and carriers of p.Ser127Arg had significantly higher LDL-C levels, suggesting it may have a stronger effect on cholesterol levels compared to other mutations.
Article Synopsis
- * FH has a significant presence in French Canada due to historical founder effects, with certain variants passed down through generations in both France and Canada.
- * This research compared cholesterol levels and cardiovascular risks of FH patients in France and French Canada, finding that those in France had significantly higher untreated cholesterol and LDL-c, underscoring the role of environmental factors in disease expression.
Additive Effect of Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Arterioscler Thromb Vasc Biol
July 2023
Background: Autosomal dominant hypercholesterolemia (ADH) is due to deleterious variants in , , or genes. Double heterozygote for these genes induces a more severe phenotype. More recently, a new causative variant of heterozygous ADH was identified in .
View Article and Find Full Text PDFArticle Synopsis
- Patients with Fanconi anemia (FA) show chromosome instability, leading to exhaustion of hematopoietic stem cells and a higher risk of developing poor-prognosis myeloid leukemia.
- A study involving 62 patients revealed unique mutations and structural variants that resemble BRCA-related cancers, with many patients showing chromosome 1q gain linked to MDM4 trisomy, which downregulates p53 signaling.
- MDM4 triplication not only enhances the survival of FA stem cells but also promotes leukemia development, suggesting that targeting MDM4 could be a potential therapeutic strategy to disrupt this pathway.